A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820952



Internal ID16063088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120871522..120988553hg38UCSC Ensembl
InnerchrX:120005376..120122407hg19UCSC Ensembl
InnerchrX:119889404..119950088hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38117032
hg19117032
hg1860685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420208
SamplesNA10851
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1
MethodSequencing
AnalysisRead-depth of sequencing coverage was calculated for each base of human reference genome assembly build 36.3 (hg18) by our own script. Influence of GC contents on the read-depth of sequencing coverage was adjusted using modified method suggested by Yoon et al. We sought the relationship between GC contents and read-depth of coverage in 100bp windows. Then the single base RD (Read depth) was adjusted by the relationship.
PlatformIllumina IIx
Comments
ReferenceJu_et_al_2010
Pubmed ID20802225
Accession Number(s)nsv820952
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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